Evidence map›Paper›PMID 29988143›Full record

Trial reportNature medicine2018

Somatic mutations precede acute myeloid leukemia years before diagnosis.

Pinkal Desai, Nuria Mencia-Trinchant, Oleksandr Savenkov, Michael S Simon, Gloria Cheang, Sangmin Lee, Michael Samuel, Ellen K Ritchie, Monica L Guzman, Karla V Ballman and 2 more

Abstract readClinical TrialObservational Study
In one paragraph

Trial report in Nature medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 368 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
368citing papers in PubMed, 2 pooled it
45.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

368 citing papers in PubMed, 2 syntheses or guidelines pooled it, 607 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Review
  5. Article
  6. Article
  7. Clinical Impact and Dynamics of Clonal Hematopoiesis withJournal of nuclear medicine : official publication, Society of Nuclear Medicine · 2026
    Article
  8. Review
  9. Review
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Review
  17. Review
  18. Review
  19. Article
  20. Article

308 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 2 institutions in 2 countries.

Pinkal DesaiDivision of Hematology and Oncology, Weill Cornell Medical College, New York, NY, USA. pid9006@med.cornell.edu.
Nuria Mencia-TrinchantDivision of Hematology and Oncology, Weill Cornell Medical College, New York, NY, USA.
Oleksandr SavenkovHeath Care Policy and Research, Weill Cornell Medical College, New York, NY, USA.
Michael S SimonBarbara Ann Karmanos Cancer Institute, Detroit, MI, USA.
Gloria CheangDepartment of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY, USA.
Sangmin LeeDivision of Hematology and Oncology, Weill Cornell Medical College, New York, NY, USA.
Michael SamuelDivision of Hematology and Oncology, Weill Cornell Medical College, New York, NY, USA.
Ellen K RitchieDivision of Hematology and Oncology, Weill Cornell Medical College, New York, NY, USA.
Monica L GuzmanDivision of Hematology and Oncology, Weill Cornell Medical College, New York, NY, USA.ORCID http://orcid.org/0000-0002-9262-8246
Karla V BallmanHeath Care Policy and Research, Weill Cornell Medical College, New York, NY, USA.
Gail J RobozDivision of Hematology and Oncology, Weill Cornell Medical College, New York, NY, USA.
Duane C HassaneDivision of Hematology and Oncology, Weill Cornell Medical College, New York, NY, USA. dhassane@med.cornell.edu.
Cornell University · USThe Barbara Ann Karmanos Cancer Institute · US

Funding

Tumor Biology and Microenvironment (Program 1)P30CA022453 · NCI · WAYNE STATE UNIVERSITY · PI Julie Lynn Boerner · 1985 to 2026
$68.4M
WOMENS HEALTH INITIATIVE-N01WH22110N01WH022110 · WH · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ROSS, PRENTICE · 1992 to 2006
$1.2M
NCI NIH HHS P30 CA022453WHI NIH HHS N01 WH022110
6 · The paper itself

Abstract

The pattern of somatic mutations observed at diagnosis of acute myeloid leukemia (AML) has been well-characterized. However, the premalignant mutational landscape of AML and its impact on risk and time to diagnosis is unknown. Here we identified 212 women from the Women's Health Initiative who were healthy at study baseline, but eventually developed AML during follow-up (median time: 9.6 years). Deep sequencing was performed on peripheral blood DNA of these cases and compared to age-matched controls that did not develop AML. We discovered that mutations in IDH1, IDH2, TP53, DNMT3A, TET2 and spliceosome genes significantly increased the odds of developing AML. All subjects with TP53 mutations (n = 21 out of 21 patients) and IDH1 and IDH2 (n = 15 out of 15 patients) mutations eventually developed AML in our study. The presence of detectable mutations years before diagnosis suggests that there is a period of latency that precedes AML during which early detection, monitoring and interventional studies should be considered.

Indexed as

AllelesCase-Control StudiesClonal EvolutionDisease ProgressionFemaleHumansLeukemia, Myeloid, AcuteMultivariate AnalysisMutationMutation RateOdds RatioRisk Factors

Identifiers

PMID29988143
PMCPMC6849383
OpenAlexW2783064655

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.